(Adnkronos) - L’atrofia muscolare spinale (Sma) è una patologia neuromuscolare che colpisce circa un neonato su diecimila, prima del 2017, quando nuovi farmaci e la possibilità di effettuare uno screening neonatale, hanno portato oltre il 90% la probabilità di sopravvivenza, era la prima causa di morte dell’infanzia nella forma uno, quella più grave. “Dall’avvento dei farmaci c’è stata una vera rivoluzione copernicana perché i bambini con la forma uno non muoiono più. Inoltre l’arrivo dello screening neonalate ha sovvertito in maniera definitiva questa situazione”, dichiara Marika Pane, direttore clinico del Centro Nemo pediatrico di Roma e professore associato di Neuropsichiatria infantile all’Università Cattolica del Sacro Cuore di Roma. Sono molte le sperimentazioni di nuovi farmaci o le modalità di somministrazione di quelli già esistenti. Come ad esempio la somministrazione per midollo invece che per via endovenosa. “In questa nuova fase della malattia dopo l’avvento di nuovi medicinali vediamo dei bambini e dei ragazzi che crescono in maniera diversa, vediamo dei quadri clinici nuovi, ma restano dei punti che possono essere migliorati”, dichiara Eugenio Mercuri, direttore dell’Unità operativa di Neuropsichiatria infantile del Policlinico Agostino Gemelli – Università Cattolica del Sacro Cuore di Roma.
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00:00The spinal muscular atrophy, SMA, is a neuromuscular pathology that affects about 1 in every 10,000 children.
00:09Before 2017, when new drugs and the possibility of doing a neonatal screening
00:13brought more than 90% to the probability of survival, it was the first cause of death of childhood in Form 1, the most serious.
00:20From the advent of drugs and treatments, I like to talk about a real Copernican revolution, or a SMA 3.0.
00:28Children with Form 1 no longer die, and I believe that this is really the great revolution,
00:34the great victory that the scientific community and the Association of Families have achieved in recent years.
00:41But then the arrival of newborn screening, and therefore of neonatal screening,
00:46has still radically and definitively subverted this situation.
00:52You have the opportunity to offer something to two young parents who have diagnosed a disease of this kind,
00:58and above all to give them a completely different quality of life compared to what it was 6-7 years ago.
01:06On the other hand, of course, it's a bit like breaking a castle.
01:10We, let's say, break what is a castle that in 9 months these two young parents built,
01:18and therefore, let's say, it is certainly a strong impact, a very strong emotional impact that must be managed,
01:25and therefore we also need the help of psychological support.
01:30We try to communicate the diagnosis together with the geneticist, but then also together with a psychological support
01:36that follows the family along the way and also in the therapeutic choice.
01:41There are many experiments in new drugs and the modalities of submonistration of those already existing.
01:46For example, the submonistration for midollo instead of that in viandra venosa.
01:49Genetic therapy, which at this time was only available for endovena submonistration for children of relatively small age and weight,
02:00is in a phase of experimentation to see the possibility of being able to adopt the same therapy,
02:06but by submonistrating it for entratical viandra, that is, directly in the midollo.
02:11This would allow to give smaller doses compared to the very large doses that should be given for a very large child or for an adult,
02:20where endovenous submonistration was done.
02:23There are also other drugs under experimentation at the moment, which are different drugs.
02:30The most obvious example is that of myostatin inhibitors,
02:34that is, drugs that, if administered, would promote muscle growth,
02:40where instead the mechanism of the pathology is to make the muscle a little smaller.
02:44In Italy, we have instituted for several years a registry called ISMAR,
02:50part of an international registry that was then expanded in Italy to cover the entire Italian network
02:57of all the centers that are recognized by the region as prescription centers for spinal muscular atrophy.
03:02Just recently, this large registry has allowed us to go and see what has happened in Italy since 2016,
03:09that is, since the year when the first drug was available for these children.
03:14And it is beautiful to see that while in the past, before the arrival of drugs,
03:19we had that only 8% of children survived beyond 2 years,
03:23now we have a percentage of children treated that is higher than 90%,
03:28not only at 2 years, but some of these children are already 7 or 8 years old.